Mie University Researchers Develop Groundbreaking CRISPR Technique to Remove Extra Chromosome in Down Syndrome Cells

By Barrier Free Japan

September 2 2025

MIE – In February 2025, a research team at Mie University announced a pioneering breakthrough in genome editing technology that could transform the future of Down syndrome research.

Led by Dr. Ryotaro Hashizume of the Graduate School of Medicine, Unit for Genomic Manipulation and Technology Development, the team had successfully developed a technique to eliminate the extra copy of chromosome 21 in cells derived from individuals with Down syndrome. The condition, caused by trisomy 21, affects roughly one in every 700 births and leads to intellectual disabilities and other health complications.

Using the CRISPR-Cas9 genome editing system, the researchers achieved removal of the additional chromosome with a success rate of up to 37.5 percent. In the treated cells, gene expression, cell proliferation speed, and antioxidant capacity were restored to typical levels. The technique proved effective not only in dividing cells but also in differentiated, non-dividing cells such as fibroblasts.

According to the research team, this study represents the first significant step toward eliminating the root genetic cause of Down syndrome at the cellular level. The findings are expected to contribute in the future to the prevention and potential improvement of a wide range of associated complications.